Christ Emanuel, Iacovazzo Donato, Korbonits Márta, Perren Aurel
Division of Endocrinology, Diabetology and Metabolism and Center of Endocrine Tumors, University Hospital of Basel, Basel, Switzerland.
Centre for Endocrinology, William Harvey Research Institute, Barts and London School of Medicine, Queen Mary University of London, London, United Kingdom.
Endocr Relat Cancer. 2023 May 16;30(6). doi: 10.1530/ERC-22-0327. Print 2023 Jun 1.
Endogenous hyperinsulinemic hypoglycemia (EHH) is a rare condition with an incidence of approximately 4-6 per million person-years and comprises a group of disorders causing hyperinsulinemic hypoglycemia without exogenous administration of insulin or its secretagogues. In adults, most cases (approximately 90%) are secondary to a single insulinoma. Other causes include insulinoma in the context of multiple endocrine neoplasia type 1 (approximately 5% of cases) and non-insulinoma pancreatogenous hypoglycemia syndrome, which is estimated to account for 0.5-5% of all cases. Recently, an entity called insulinomatosis has been described as a novel cause of EHH in adults. The characteristic feature of insulinomatosis is the synchronous or metachronous occurrence of multiple pancreatic neuroendocrine tumors expressing exclusively insulin. While most cases arise sporadically, there is recent evidence that autosomal dominant inheritance of mutations in the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A (MAFA) gene can cause a familial form of insulinomatosis. In these families, EHH is paradoxically associated with the occurrence of diabetes mellitus within the same family. This review summarizes the current clinical, biochemical, imaging and genetic knowledge of this disease.
内源性高胰岛素血症性低血糖症（EHH）是一种罕见疾病，发病率约为每百万人年4 - 6例，它包含一组在未外源性给予胰岛素或其促分泌剂的情况下导致高胰岛素血症性低血糖症的病症。在成人中，大多数病例（约90%）继发于单一胰岛素瘤。其他病因包括1型多发性内分泌腺瘤病中的胰岛素瘤（约占病例的5%）以及非胰岛素瘤性胰源性低血糖综合征，据估计该综合征占所有病例的0.5% - 5%。最近，一种名为胰岛细胞瘤病的实体被描述为成人EHH的一种新病因。胰岛细胞瘤病的特征是多个仅表达胰岛素的胰腺神经内分泌肿瘤同步或异时发生。虽然大多数病例为散发性，但最近有证据表明，v-maf禽肌动蛋白神经纤维肉瘤癌基因同源物A（MAFA）基因突变的常染色体显性遗传可导致家族性胰岛细胞瘤病。在这些家族中，EHH与同一家族中糖尿病的发生存在矛盾关联。本综述总结了该疾病目前的临床、生化、影像学和遗传学知识。
